title: Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain.
abstract: A girl with relapsing cervical lymphadenopathy due to Mycobacterium avium subsequently developed abdominal adenopathy and intestinal inflammation. 1 known (c.1623_1624delGCinsTT) and 1 novel mutation (c.65_68delCTGC of exon2) of the Interleukin-12 Receptor-beta1 (IL-12Rbeta1) gene was detected. Unlike reports of a more favorable outcome in these patients, our patient died of severe intestinal involvement.
authors.affiliation: Department of Pediatric Pulmonology and Immunology, Ghent University Hospital, Ghent, Belgium. filomeen.haerynck@Ugent.be
authors.forename: Filomeen
authors.initials: F
authors.lastname: Haerynck
authors.forename: Steve M
authors.initials: SM
authors.lastname: Holland
authors.forename: Sergio D
authors.initials: SD
authors.lastname: Rosenzweig
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Petra
authors.initials: P
authors.lastname: Schelstraete
authors.forename: Frans
authors.initials: F
authors.lastname: De Baets
mesh_terms: D002648:Child; D004487:Edema / Q000473:pathology; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008168:Lung / Q000382:microbiology / Q000473:pathology; D008954:Models, Biological; D009154:Mutation; D009164:Mycobacterium Infections / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D009162:Mycobacterium avium / Q000378:metabolism*; D009205:Myocarditis / Q000235:genetics / Q000382:microbiology / Q000401:mortality*; D053707:Receptors, Interleukin-12 / Q000235:genetics*
chemical_list: D053707:Receptors, Interleukin-12